International Registry of Werner Syndrome

描述（由申请人提供）：沃纳综合征的国际登记处已经存在于华盛顿大学在过去的15年：1。确定来自世界各地的其他谱系并对其进行基因分型（登记处是美国唯一提供WS遗传确认的组织）; 2.建立和冷冻保存细胞材料，包括来自受影响患者和来自这些谱系的其他家庭成员的EB病毒转化的外周血B淋巴细胞细胞系（LCL）、原代皮肤成纤维细胞培养物和永生化皮肤成纤维细胞培养物; 3.向华盛顿大学和其他地方的同事提供新鲜的外周血样品、培养的细胞材料、WRN cDNA、抗WRN抗体;以及4.维护和扩展华盛顿大学Werner综合征国际注册数据库，该数据库包含安全Web服务器上的参与者信息和单独的WorldWeb站点，其中包含临床医生和寻求Werner综合征相关信息的普通受众的公共信息。 这项建议将继续这些职能，并作出以下改进：1.建立选择性可逆hTERT永生化WS和对照成纤维细胞; 2. Werner综合征患者和无明显WRN或LMNA突变的非典型Werner综合征病例中的候选基因的序列分析; 3.作为华盛顿大学病理学系新开发的网络计算机系统的一部分，我们建议将登记处的本地安全内联网功能（临床和实验室数据）和公共网站转移到一个具有增强安全性、自动备份和自动病毒筛选的新系统;以及为了给华盛顿大学和其他研究机构的研究人员提供更多的原代培养物和生化分析材料，我们将尽最大努力从尸检的WS受试者身上获得大量的冷冻保存的皮肤外植体和其他组织。

DESCRIPTION (provided by applicant): The International Registry of Werner Syndrome has existed at the University of Washington for the past 15 years to: 1. ascertain and genotype additional pedigrees from around the world (The Registry is the sole organization in the U.S. that provides genetic confirmation of the WS); 2. establish and cryopreserve cell materials including Epstein-Barr virally transformed peripheral blood B lymphocytes cell lines (LCL), primary skin fibroblast cultures and immortalized skin fibroblast cultures from affected patients and other family members from these pedigrees; 3. provide fresh peripheral blood samples, cultured cell materials, WRN cDNA, anti-WRN antibodies to colleagues at the University of Washington and elsewhere; and 4. maintain and expand the University of Washington International Registry of Werner Syndrome Database on the participant information on a secure web server and a separate WorldWeb site with public information for clinicians and for a general audience seeking information regarding Werner syndrome. This proposal would continue these functions with the following enhancements: 1. the establishment of a selection reversible hTERT immortalized WS and control fibroblasts; 2. sequence analysis of candidate genes in Werner syndrome patients and atypical Werner syndrome cases with no apparent WRN or LMNA mutations; 3. as a part of the University of Washington Department of Pathology's newly developed networked computer system we proposed transfer of the Registry's local secure intranet function (clinical and laboratory data) and the public website to a new system with enhanced security, automated backup, and automated viral screens; and 5. to make a major effort to obtain large numbers of cryopreserved skin explants and other tissues from autopsied WS subjects to provide additional primary cultures and biochemical assayable materials for investigators here at the University of Washington and other institutes.